Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: Molecular mechanisms and clinical presentations

European Journal of Endocrinology

Volumn 172, Issue 6, 2015, Pages 803-811

  Lodish, Maya B ^a   Yuan, Bo ^b   Levy, Isaac ^a   Braunstein, Glenn D ^c   Lyssikatos, Charalampos ^a   Salpea, Paraskevi ^a   Szarek, Eva ^a   Karageorgiadis, Alexander S ^a   Belyavskaya, Elena ^a   Raygada, Margarita ^a   Faucz, Fabio Rueda ^a   Izatt, Louise ^d   Brain, Caroline ^e   Gardner, James ^f   Quezado, Martha ^g   Carney, J Aidan ^h   Lupski, James R ^b,i   Stratakis, Constantine A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d GUY S HOSPITAL   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f Our Lady of the Lake Medical Center   (United States)

^g NATIONAL CANCER INSTITUTE   (United States)

^h MAYO CLINIC   (United States)

ⁱ TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; CYCLIC AMP DEPENDENT PROTEIN KINASE CATALYTIC SUBUNIT; PRKACA PROTEIN, HUMAN;

ADRENALECTOMY; ARTICLE; CHILD; CHROMOSOME 19P; CHROMOSOME 2P; CLINICAL ARTICLE; CLINICAL FEATURE; CUSHING SYNDROME; CYTOGENETICS; FEMALE; GENE AMPLIFICATION; GENE LOCUS; GENE REARRANGEMENT; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRKACA GENE; SCHOOL CHILD; ADRENAL GLAND; ADULT; CASE REPORT; COPY NUMBER VARIATION; GENETICS; HYPERPLASIA; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; SURGERY; YOUNG ADULT;

ADRENAL GLANDS; ADRENALECTOMY; ADULT; CHILD; CHILD, PRESCHOOL; CUSHING SYNDROME; CYCLIC AMP-DEPENDENT PROTEIN KINASE CATALYTIC SUBUNITS; DNA COPY NUMBER VARIATIONS; FEMALE; GENE AMPLIFICATION; HUMANS; HYPERPLASIA; MALE; PHENOTYPE; YOUNG ADULT;

EID: 84930608300     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-14-1154     Document Type: Article

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